Rainer Döffinger

Research interests

Publications

• Longitudinal analysis reveals that delayed bystander CD8+ T cell activation and early immune pathology distinguish severe COVID-19 from mild disease

  Immunity · 2021 · 10.1016/j.immuni.2021.05.010

• A thermostable, closed SARS-CoV-2 spike protein trimer

  Nature Structural & Molecular Biology · 2020 · 10.1038/s41594-020-0478-5

• Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

  Journal of Allergy and Clinical Immunology · 2018 · 10.1016/j.jaci.2018.01.039

• Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

  Science · 2018 · 10.1126/science.aar2641

• Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

  The American Journal of Human Genetics · 2016 · 10.1016/j.ajhg.2016.12.003

• Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

  Journal of Allergy and Clinical Immunology · 2016 · 10.1016/j.jaci.2016.06.021

• Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3

  Blood · 2014 · 10.1182/blood-2014-04-570101

• Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage

  Science · 2013 · https://doi.org/10.1126/science.1243292

• A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

  Bioinformatics · 2012 · https://doi.org/10.1093/bioinformatics/bts526

• IRF8 Mutations and Human Dendritic-Cell Immunodeficiency

  New England Journal of Medicine · 2011 · 10.1056/nejmoa1100066

• The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency

  The Journal of Experimental Medicine · 2011 · 10.1084/jem.20101459

• Revisiting Human IL-12Rβ1 Deficiency

  Medicine · 2010 · 10.1097/md.0b013e3181fdd832

• Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

  Journal of Clinical Investigation · 2010 · 10.1172/jci43653

• The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88

  Nature Immunology · 2010 · 10.1038/ni.1914

• Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

  The Journal of Experimental Medicine · 2010 · https://doi.org/10.1084/jem.20091983

• Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

  Medicine · 2010 · 10.1097/md.0b013e3181fd8ec3

• Dysregulated Humoral Immunity to Nontyphoidal Salmonella in HIV-Infected African Adults

  Science · 2010 · https://doi.org/10.1126/science.1180346

• IRAK-4- and MyD88-Dependent Pathways Are Essential for the Removal of Developing Autoreactive B Cells in Humans

  Immunity · 2008 · 10.1016/j.immuni.2008.09.015

• A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

  Journal of Clinical Investigation · 2003 · 10.1172/jci18714

• Autoantibodies to Interferon‐γ in a Patient with Selective Susceptibility to Mycobacterial Infection and Organ‐Specific Autoimmunity

  Clinical Infectious Diseases · 2003 · 10.1086/380453

• X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling

  Nature Genetics · 2001 · https://doi.org/10.1038/85837

• In a novel form of IFN-γ receptor 1 deficiency, cell surface receptors fail to bind IFN-γ

  Journal of Clinical Investigation · 2000 · https://doi.org/10.1172/jci9166

• Human interferon‐g‐mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion

  Immunological Reviews · 2000 · https://doi.org/10.1034/j.1600-065x.2000.17810.x

• Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

  The Journal of Infectious Diseases · 2000 · https://doi.org/10.1086/315197

• A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

  Nature Genetics · 1999 · 10.1038/7701

• IL-12 and IFN-γ in host defense against mycobacteria and salmonella in mice and men

  Current Opinion in Immunology · 1999 · 10.1016/s0952-7915(99)80055-7

• Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.

  Journal of Clinical Investigation · 1998 · 10.1172/jci4950

• Impairment of Mycobacterial Immunity in Human Interleukin-12 Receptor Deficiency

  Science · 1998 · https://doi.org/10.1126/science.280.5368.1432

Current projects

No projects listed.